Hobbies: Baseball, swimming, and karate!
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HELLO! I can't believe I'm almost 5 years old! I still have a few medical challenges, but I get better each year.
I graduated from my Phonology (speech) preschool and now go to a regular pre-school. My speech has improved so much!!! First, I go to a church preschool in the mornings and then an afternoon program (through the early childhood program with the school district). I still receive speech and occupational therapy once a week at that school. I love both my classes. I even get to ride the bus home, which is so fun for me! (I do wear a seat belt and enjoy riding with my classmates.
I also do physical therapy to help keep my muscles loose (in the morning, I always wake up stiff all over until I get moving). I used to wear ankle/foot braces to help my feet from turning inward. But, fortunately, after therapy and walking around, I'm able to get flat-footed and wear my favorite tennis shoes and sandles. Hurrah! I've also started taking horseback riding lessons once a week - which is a lot of fun and really helps loosen me up! (If your looking for a place in Vegas to ride horses for therapy, check out SPIRIT THERAPIES - just click!)
A professional baseball relief pitcher, Antonio Alfonseca, who plays for the Marlins, also has six fingers and six toes. Just like I did!
I went back to Texas in December, 2000 to have minor surgery done on my nose . I had a bone abnormality on the bridge of my nose and the doctor wanted file it down before the bone grew through the skin (ouch!). The only problem I had was not being able to eat breakfast that day and I looked like Rocky for a few days (but, you should've seen the other guy!)
Last year, he detected a new possible problem called, Fibrous Dysplasia. It is a rare bone disease that could be causing my skull bones to grow at a very fast rate. This could have been why I needed the skull surgery for craniosynostosis (when my soft spots closed prematurely) in 1999. (for surgery photos, click here). The positive side is if the condition gets worse, my doctor can help monitor it with CT scans and frequent visits to my eye doctor. If the bone begins to put pressure on nerves in my brain (which can cause deafness or blindness), then he would go into my skull and scrape down the bone. The disease, which is not caused from chromosome abnormalties, but a freak of nature, can occur in one body part or multiple bones of the body.
So, here's the good news, while the bones have not decreased in size and are thicker than the average child's skull bones, they have not progressed and therefore there is no need for surgery at this time. We are all still unsure what has caused the bone abnormalities, but thankfully, my head circumference is normal, I'm developing normally, and that is what's important! I will get another head CT in a year as a follow up. (For more information about craniosynostosis and related skull problems and syndromes, check out the website from John Hopkins Hospital, they've added my story!)
What syndrome do I have? The question remains. After learning the possibility that I may have Fibrous Dysplasia, we went to see our fourth geneticist in San Diego. Since I had problems with my skull bones, our doctor wanted to do a full body skeletal survery to see if my bones could give her a clue to a syndrome. Unfortunately, we learned many of my bones have problems with them. While some are very minor and just affect the shape of my hands or fingers, others (especially the longer bones) are more severe and will require constant monitoring. In addition to or instead of Fibrous Dysplasia, she believes I have a combination of two other syndromes: Fronto-metaphyseal Dysplasia (FMD) and Oto-Palatal-Digital Syndrome (OPD). Both are rare syndromes and neither of them have a test to positively diagnose them. FMD is a progressive bone disease, which brings more questions as to how my bones will continue to grow and how it can affect my mobility in the future. Our doctor has seen a few patients with the syndrome and their bones are already getting stiffer at a young age, whereas, my flexion and stiffness seems to be getting better. So maybe I will beat the odds. Due to deafness resulting later in life because of bones putting pressure on the nerves, this syndrome will be monitored the same way as the Fibrous Dysplasia. The second syndrome, OPD, has many other orthopedic characterisitics that I have like extra fingers (I had 2 extra pinky fingers removed at 9 months) and rocker bottom feet (a condition which I am still battling). My parents were hopeful to finally get more information on a syndrome that fits my features, so doctors and therapists can better treat me. Previously, I was diagnosed with possible Trisomy 13, which was definitely ruled out, then Carpenter's, (there is no test for this one),and am now being tested for a new syndrome. Because of all the bone issues, we were directed by our Dallas geneticist, Dr. Donald Day, to see another doctor who specialized in bone dysplasias. So, off we went to L.A. to see Dr. David Rimoin and his team at Cedar-Sinai Medical Center. They too, were baffled as to witch syndrome they could classify me into. Everyone seems to agree I have an overall bone dysplasia, yet, Dr. Rimoin believes my syndrome has more characteristics with Carpenter Syndrome.. Although, another doctor from Cedar-Sinai, decided to take my blood and send it for testing at John Hopkins for Saechre-Chotzen syndrome. We had the test done in April, yet we still have not heard results. I think I have my own Brett Bradley syndrome. I have met other children/adults who waited many years before a diagnosis was ever given, although, I am hopeful medical technology will be on my side in a few years. (The more we read about Fronto-metaphyseal dysplasia, the more we think, "this is the one", so if you have been diagnosed with this as well, we'd love to hear from you!)
But, heres some more GREAT news! I also had another check up (August, 2001) with my cardiologist, Dr. Sarah Bluemenschein, to check on my Atrial Septal Defect (ASD), otherwise know as a hole in my heart. Luckily, the ASD closed all on its own and my heart (once enlarged) was labeled as normal! If the hole had not closed, new technology allows doctors to fix it by going through my leg, instead of open heart surgery !!!
Also, in my recent check-up in September, 2003, the Shriner's orthopaedic specialist found out from looking at old x-rays (in 2000) that I have dislocated elbows. So, after taking a current x-ray, we found that yes, they were dislocated, which is hindering my extending my elbows out all the way and turning my palms up. I will go see a hand/wrist specialist in a few months to see what action, if any, needs to be taken. The good news is while my right leg hasn't improved any, the bend has not gotten worse. So, we are still able to hold surgery off and will recheck in 6 months.
In a nutshell, this is my medical update. Despite all the new problems and still unanswered questions with the old ones, I really am doing so well. I am "right on target" developmentally with cognitive, and gross motor skills. A feat my therapists never thought they would see! I'm a very happy, strong-willed and determined little boy. I really enjoy watching the smiles on my parent's faces when they see me accomplish something new. And the best is yet to come!!!
Interventions, Diagnosis and Accomplishments from birth to 15 months.
Before and after photos
(Bradley Family)
Lauren's Photos
(If you have similar features, or know of someone, please email my mommy!)
*Arthrogryposis, *Craniosynostosis, *Polydactyly (extra pinky fingers),
2 ASDs (Atrial Septal Defect), joint contractures, Coronal & Lambdoid Sutures Closed, Missing many permanent teeth, umbilical hernia, flat nasal bridge, bossing forehead, dislocated elbows, curved and tubular bones, rocker bottom feet, sacral dimple, asthma, long, thin fingers & toes, very smart & sweet!